title: BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma.
abstract: OBJECTIVE
  Desmoplastic infantile astrocytoma/ganglioglioma (DIA/DIG) is a rare primary neuroepithelial brain tumour typically affecting paediatric patients younger than 24 months. Knowledge about genetic alterations in DIA/DIG is limited. However, a previous study on BRAF V600E mutation in paediatric glioma revealed a BRAF mutation in one of two tested DIAs/DIGs. The limited number of cases in that study did not allow any conclusion about mutation frequency of BRAF in this tumour entity.
  
  
  METHODS
  We collected a series of 18 DIAs/DIGs for testing BRAF V600E mutational status by BRAF V600E immunohistochemistry (clone VE1). Cases with sufficient DNA were tested for BRAF V600E mutation by pyrosequencing.
  
  
  RESULTS
  Three out of 18 DIAs/DIGs presented with VE1 binding. A considerable proportion of BRAF V600E mutated tumour cells was detected in the cortical tumour component, whereas the pronounced leptomeningeal tumoural stroma was predominantly negative for VE1 binding. Pyrosequencing confirmed BRAF V600E mutation in two of three VE1-positive cases.
  
  
  CONCLUSIONS
  BRAF V600E mutation affects a subset of DIAs/DIGs and offers new therapeutic opportunities.
authors.affiliation: Department of Neuropathology, Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany; Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Koelsche
authors.forename: F
authors.initials: F
authors.lastname: Sahm
authors.forename: W
authors.initials: W
authors.lastname: Paulus
authors.forename: M
authors.initials: M
authors.lastname: Mittelbronn
authors.forename: F
authors.initials: F
authors.lastname: Giangaspero
authors.forename: M
authors.initials: M
authors.lastname: Antonelli
authors.forename: J
authors.initials: J
authors.lastname: Meyer
authors.forename: F
authors.initials: F
authors.lastname: Lasitschka
authors.forename: A
authors.initials: A
authors.lastname: von Deimling
authors.forename: D
authors.initials: D
authors.lastname: Reuss
mesh_terms: D001254:Astrocytoma / Q000235:genetics* / Q000378:metabolism; D001932:Brain Neoplasms / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D018303:Ganglioglioma / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics* / Q000378:metabolism
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF V600E; VE1; desmoplastic infantile astrocytoma; desmoplastic infantile ganglioglioma; glioma; immunohistochemistry